TABLE 3.
Cohorts of parental mosaicism
| Study | Number of families/trios analysed for parental mosaicism | Diagnosis | Tissue analysed | Ratio of families with parental mosaicism |
|---|---|---|---|---|
| Campbell, Yuan et al. (2014) | 100 | Mixed deletion syndromes | Blood | 4% |
| Xu et al. (2015) | 174 | Dravet syndrome |
Blood Hair follicles (2), buccal mucosa (1), saliva (2), urine (2), sperm (1) |
8.6% |
| Zillhardt et al. (2016) | 18 | Malformations of cortical development | Blood | 22.2% |
| Yang et al. (2017) | 112 (blood)/56 (sperm) | Dravet syndrome | Blood, sperm | 17.86% (in sperm) |
| Krupp et al. (2017) | 2264 | Autism spectrum disorder | Blood | 6.8% |
| Myers et al. (2018) | 120 | Epileptic encephalopaties | Blood, saliva | 8.3% |
| Hu (2019) | 19 | Holoprosencephaly | Blood | 26% |
| Legrand et al. (2019) | 36 | COL3A1‐related vascular Ehlers–Danlos syndrome | Blood | 2–3% |
| Møller et al. (2019) | 75 | Epilepsia |
Blood In 26 parents: additional oral mucosa and urothelium |
6.6% |
| de Lange et al. (2019) | 80 | Dravet syndrome | Blood | 6.25% |
| Yang et al. (2019) | 80 (blood)/51 (sperm) | ATP1A3‐related alternating hemiplegia | Blood, sperm | 4% (in sperm) |
| Cao et al. (2019) |
2373 (trios) 9619 (proband‐only) |
Mixed | Blood | 0.3% |
| Wright et al. (2019) | 420 | Mixed developmental disorders | Blood, saliva | 0.5% |
| Gambin et al. (2020) |
768 (BHCMG cohort) 46 (BG cohort) |
Mixed |
Blood In three parents: additional hair follicles, saliva, buccal cells, urine |
2% (BHCMG 16/768) 23% (BG cohort 11/46) |
| Breuss et al. (2020) | 14 | Autism spectrum disorder | Sperm | 21.4% |
| Shu et al. (2021) | 237 | Mixed neurodevelopmental diseases | Blood | 3.0% |
| Our study (2021) | 43 (blood)/31 (sperm) | Mixed ID syndromes | Blood, sperm | 3% (in sperm) |
Abbreviation: ID, intellectual disability.